Canonical Allele Identifier: CA340306
Gene: AIP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4890
ClinVar RCV Id: RCV000005168
dbSNP Id: rs267606580

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490824dup , CM000673.2:g.67490824dup GRCh38
NC_000011.9:g.67258295dup , CM000673.1:g.67258295dup GRCh37
NC_000011.8:g.67014871dup NCBI36
NG_008969.1:g.12791dup , LRG_460:g.12791dup

Transcript Alleles

HGVS Amino-acid change
NM_001302959.1:c.647dup VV NP_001289888.1:p.His216GlnfsTer13
NM_001302960.1:c.816dup VV NP_001289889.1:p.Arg273ThrfsTer28
NM_003977.3:c.824dup VV NP_003968.3:p.His275GlnfsTer13
XM_024448761.1:c.824dup XP_024304529.1:p.His275GlnfsTer13
NM_003977.4:c.824dup VV MANE Preferred NP_003968.3:p.His275GlnfsTer13
ENST00000279146.7:c.824dup ENSP00000279146.3:p.His275GlnfsTer13
ENST00000528641.6:c.635dup ENSP00000434982.2:p.His212GlnfsTer13